Strain Data Sheet

RBRC00807

Strain Information

Image
BRC No.RBRC00807
TypeTargeted Mutation CongenicCartagena
SpeciesMus musculus
Strain nameB6.129S2-Ercc5<tm1Shm>/ShmRbrc
Former Common nameXpg/2 Knockout mice
H-2 Haplotype
ES Cell lineD3 [129S2/SvPas]
Background strainC57BL/6NCrSlc
Appearanceblack [a/a B/B C/C]
Strain developmentDeveloped by Dr. T. Shiomi, National Institute of Radiological sciences in 1999. A neomycin selected cassette was transfered into D3 ES cels to replace the exon 3 of Ercc5 gene. C57BL/6Cr background.
Strain descriptionB6.129S2-Ercc5<tm1Shm>. Xeroderma pigmentosum group G (XPG) gene is a structure-specific DNA endonuclease which plays a role in nucleotide exision repair and transcription-coupled repair of oxidative DNA damage. Xeroderma pigmenrosum (XP) is a autosomal recessive disorder characterized by hypersensitivity to sunlight, abnomal pigmentation, and predisposition to skin cancers, and caused by defects in an early step of the nucleotide exicision repair pathway. Xpg2 deficient mutant mice exhibit severely postnatal growth failure and underwent premature death. This strain is useful as a animal model for Xeroderma Pigmentosum.
Colony maintenanceSibling Mating (Heterozygote x Wild-type)Homozygous mutant mice display severely postnatal growth failure and underwent premature death.
References
Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene.
Harada Y N, Shiomi N, Koike M, Ikawa M, Okabe M, Hirota S, Kitamura Y, Kitagawa M, Matsunaga T, Nikaido O, Shiomi T
Mol. Cell. Biol., 19, 2366-2372 (1999). 10022922

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Ercc5excision repair cross-complementing rodent repair deficiency, complementation group 51Ercc5targeted mutation 1, Tadahiro Shiomi
  • cerebrooculofacioskeletal syndrome 3(MedGEN)

  • xeroderma pigmentosum group G(DisGeNET, MedGEN)
    • neoneomycin resistance gene (E. coli)1herpes simplex virus thymidine kinase promoter (HSV tk promoter)
  • cerebrooculofacioskeletal syndrome 3(MedGEN)

  • xeroderma pigmentosum group G(DisGeNET, MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal digestion(MP:0001664)

  • abnormal hepatocyte morphology(MP:0000607)

  • abnormal intestine morphology(MP:0000477)

  • abnormal small intestine morphology(MP:0000496)

  • decreased spleen weight(MP:0004953)
    • more 6 phenotypes
  • delayed intestine development(MP:0000478)

  • phototoxicity(MP:0005653)

  • postnatal growth retardation(MP:0001732)

  • postnatal lethality, complete penetrance(MP:0011085)

  • small liver(MP:0000601)

  • small stomach(MP:0002691)
    • Detailed phenotype data

    Ordering Information

    Donor DNAherpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli neo, mouse Xpg genomic DNA
    Research applicationCell Biology Research
    Mouse Models for Human Disease
    Specific Term and ConditionsIn publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE, an acknowledgment to the DEPOSITOR is requested.
    DepositorTadahiro Shiomi (National Institute of Radiological Sciences (NIRS))
    Strain Statusan icon for Frozen embryosFrozen embryos
    an icon for Frozen spermFrozen sperm
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Cryopreserved sperm (within 1 month)
    Cryopreserved embryos (within 1 month)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)
    3. Acceptance of responsibility for living modified organism (Japanese / English)

    Genotyping protocol -PCR-

    BRC mice in Publications

    No Data